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rs119484086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs119484086(A;A)
Make rs119484086(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position12992957
GeneELAC2
is asnp
is mentioned by
dbSNPrs119484086
dbSNP (classic)rs119484086
ClinGenrs119484086
ebirs119484086
HLIrs119484086
Exacrs119484086
Gnomadrs119484086
Varsomers119484086
LitVarrs119484086
Maprs119484086
PheGenIrs119484086
Biobankrs119484086
1000 genomesrs119484086
hgdprs119484086
ensemblrs119484086
geneviewrs119484086
scholarrs119484086
googlers119484086
pharmgkbrs119484086
gwascentralrs119484086
openSNPrs119484086
23andMers119484086
SNPshotrs119484086
SNPdbers119484086
MSV3drs119484086
GWAS Ctlgrs119484086
Max Magnitude0
OMIM605367
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119484086(A;A)
Alt rs119484086(A;A)
Reference Rs119484086(G;G)
Significance Pathogenic
Disease Prostate cancer Combined oxidative phosphorylation deficiency 17
Variation info
Gene ELAC2
CLNDBN Prostate cancer, hereditary, 2 Combined oxidative phosphorylation deficiency 17
Reversed 1
HGVS NC_000017.10:g.12896274C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005361.3, RCV000470586.1,